Canonical Allele Identifier: CA412726087

Gene: OTC

Linked Data

• MyVariant Identifiers: chrX:g.38271169C>T (hg19) ; chrX:g.38411916C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38411916C>T , CM000685.2:g.38411916C>T	GRCh38
NC_000023.10:g.38271169C>T , CM000685.1:g.38271169C>T	GRCh37
NC_000023.9:g.38156113C>T	NCBI36
NG_008471.1:g.64434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.922C>T MANE Select	ENSP00000039007.4:p.Pro308Ser
ENST00000643344.1:c.*672C>T	ENSP00000496606.1:n.*672C>T
ENST00000039007.4:c.922C>T	ENSP00000039007.4:p.Pro308Ser
ENST00000465127.1:c.172-254205C>T	ENSP00000417050.1:n.172-254205C>T
NM_000531.5:c.922C>T	NP_000522.3:p.Pro308Ser
NM_000531.6:c.922C>T MANE Select	NP_000522.3:p.Pro308Ser